Understanding genetic changes behind congenital heart defects
Official title: Interpreting coding/non-coding variants for congenital heart disease through gene regulatory networks
Funded at Ut Southwestern Medical Center · NIH-11264817 · Data updated 2026-11-12
This project aims to find how different DNA changes, including those outside genes, can disrupt heart development in people with congenital heart defects.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | February 1, 2025 |
| Project end | December 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $786,708 |
| NIH project number | 5R01HL176998-02 |
| Project ID | NIH-11264817 on NIH RePORTER |
Who could benefit from this research
✓Could help
People (or families) with congenital heart defects, especially those with unexplained genetic test results or rare variants, would be most relevant to this project.
✕Less likely to help
People with acquired heart disease from non-genetic causes or conditions unrelated to heart development are unlikely to benefit directly from this work.
What this research studies
From a patient's view, researchers will map how pieces of DNA and key regulatory proteins work together during heart development. They will compare genetic variants found in people with congenital heart defects to these maps to see which changes are likely to cause trouble. Laboratory models and CRISPR-based tools will be used to mimic or block specific variants and observe effects on heart cells and tissues. The team will use these results to connect individual DNA differences to disrupted development that leads to congenital heart problems.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis and point to targets for future treatments or prevention of congenital heart defects.
How similar studies have gone: Previous studies have shown that mutations in developmental transcription factors and some non-coding elements can cause congenital heart disease, but applying network-level mapping to interpret many variants is a newer approach.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Hon, Gary Chung — Ut Southwestern Medical Center
- Study coordinator: Hon, Gary Chung
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.